Neonatal osteofibrous dysplasia: Synchronous tibial and fibular involvement is common

Osteofibrous dysplasia is a rare non-malignant fibro-osseous bone tumour, first described and characterised under this name by Campanacci (1976). It is most commonly encountered in the tibia of children and young adults, but less frequently seen in the neonate with only few prior reports in the literature. We report a case of neonatal congenital osteofibrous dysplasia, presenting with unilateral limb deformity at birth. Radiographs demonstrated well-defined mixed lytic-sclerotic lesions, in a previously unreported distribution in this age-group, confined to the distal metadiaphysis of the affected tibia and fibula. Open surgery was performed for deformity correction, with tissue biopsy confirming the radiographically-suspected diagnosis. We present the up-to-date clinical, radiological, and pathological findings in this case of a rare pathology with some novel features, within this age group, in disease distribution and consequent radiographic appearances. OFD should be considered in the differential of similar congenital deforming bone lesions of the lower limb. We also review the small number of previously published cases of congenital OFD in the neonate, noting in particular that the frequency of ipsilateral fibular involvement appears to be higher than that observed in older patients.

Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia

BackgroundX-linked hypophosphatemia (XLH) is a rare genetic disorder characterized by lower limb deformity, gait and joint problems, and pain. Hence, quality of life is substantially impaired. This study aimed to assess lower limb deformity, specific radiographic changes, and gait deviations among adolescents and adults with XLH.DesignData on laboratory examination and gait analysis results were analyzed retrospectively. Deformities, osteoarthritis, pseudofractures, and enthesopathies on lower limb radiographs were investigated. Gait analysis findings were compared between the XLH group and the control group comprising healthy adults.Patients and ControlsRadiographic outcomes were assessed retrospectively in 43 patients with XLH (28 female, 15 male). Gait analysis data was available in 29 patients with confirmed XLH and compared to a healthy reference cohort (n=76).ResultsPatients with XLH had a lower gait quality compared to healthy controls (Gait deviation index GDI 65.9% +/- 16.2). About 48.3% of the study population presented with a greater lateral trunk lean, commonly referred to as waddling gait. A higher BMI and mechanical axis deviation of the lower limbs were associated with lower gait scores and greater lateral trunk lean. Patients with radiologic signs of enthesopathies had a lower GDI.ConclusionsThis study showed for the first time that lower limb deformity, BMI, and typical features of XLH such as enthesopathies negatively affected gait quality among adolescents and adults with XLH.

Lengthening and deformity correction in vascularized fibular autograft for a patient with Ewing sarcoma

We report the case of a pediatric patient with Ewing’s sarcoma of the tibia treated with vascularized fibular autograft where the resulting limb deformity and leg length discrepancy (LLD) were corrected using Ilizarov external fixator. A 14-year-old girl presented to our outpatient clinic with a deformity of the right proximal and distal tibia and an 11.7 cm of LLD after tumor reconstruction surgery. Deformity correction and limb lengthening were simultaneously performed using double corticotomy on the right proximal and distal tibia. One year postoperatively, the union of the right proximal tibia had progressed, but nonunion was observed at the right distal corticotomy site. To address this, osteosynthesis with tricortical iliac bone allograft was performed after the removal of the Ilizarov external fixator. After 6 months, the union of the distal tibia was confirmed, and the varus deformity of proximal and distal tibia improved. The LLD was also decreased, but the left lower limb was still longer by 3 cm. This report shows that vascularized fibular autografts can potentially be used for the gradual correction of LLD and deformities. However, for the treatment of multiple deformities in bones previously reconstructed with vascularized fibular graft, the possibility of impaired bone forming potential of the fibular graft should be considered.

Diaphyseal and Metaphyseal Modeling Defects—Clinical Findings and Identification of WRAP53 Deficiency in Craniometadiaphyseal Dysplasia

Background: Diaphyseal and metaphyseal modeling defects lead to severe changes in bone mass and shape, which are common features in osteoporosis that linked to non-vertebral fractures. Original mechanism of diaphyseal and metaphyseal modeling defects has proved elusive. Studying rare syndromes can elucidate mechanisms of common disorders and identify potential therapeutic targets.Methods: We evaluated a family pedigree with craniometadiaphyseal dysplasia (CRMDD, OMIM 269300), a genetic disorder that is characterized by cortical-bone thinning, limb deformity, and absent of normal metaphyseal flaring and diaphyseal constriction. Systemic radiographic examination and serum hormone test were made for this rare disease. One patient and her two normal parents were examined by means of whole-exome sequencing (WES) to identify the candidate pathogenic gene and rule out mucopolysaccharidosis and Prader–Willi Syndrome by means of Sanger sequencing.Results: There are several conspicuous radiographic characteristics: (1) bullet-shaped phalanges, (2) long and narrow pelvic inlet, absent of supra-acetabular constriction, (3) round rod-shaped long tubular bones, (4) prominent aiploic mastoid, (5) bending-shaped limb, genua varus and genu varum, and (6) congenital dislocation of elbow. Here, we did not find any wormian bones, and there are several typical clinical characteristics: (1) macrocephaly and wide jaw, (2) Avatar elf-shaped ears, pointed and protruding ears, (3) hypertrophy of limbs, (4) flat feet and giant hand phenomenon, (5) nail dystrophy, (6) limb deformity, (7) high-arched palate, (8) superficial hemangiomas, (9) tall stature, and intellectual disability. In this patient, we found biallelic frameshift deletion mutations in WRAP53, and those two mutations were transmitted from her parents respectively.Conclusions: We describe her clinical and radiological findings and presented a new subtype without wormian bones and with a tall stature. Our study showed that craniometadiaphyseal dysplasia was caused by a deficiency of WRAP53 with autosomal recessive inheritance.

Limb Deformity Correction Using the Ortho SUV Frame

Background and Objective. Limb deformity in terms of length discrepancy, angular and rotational deformities are amenable to correction using the Ilizarov method. The corrections can be achieved using the Ortho SUV Frame (OSF), a computer assisted six axes external fixator. Previous studies have reported easier and more accurate deformity correction. In this study, we report on our initial experience and treatment outcomes in using this system. Materials and Methods. This study is a case series of patients where the Ilizarov circular frame was applied and which the deformity correction was carried out using the OSF. Success and accuracy in correction, length of time to correct, number of revisions needed and complications were gathered from a review of medical records. Results. Thirty limbs in twenty nine cases were included in this report. Seventy seven percent (23/30) of the deformities were due to previous trauma. The rest were due to Blounts, infection and tumor. Correction in eighty seven percent (26/30) were achieved using the turning schedule provided by the Ortho SUV application software. Three cases required surgical removal of soft tissue interposition before further correction using the software was achieved. One case with posterior translation underwent closed manipulation. In the end all planned deformity corrections were achieved. Complications included pin tract swelling and erythema in 13% and all resolved either with oral antibiotics alone or combined with surgical release of pin sites under local anesthesia. Conclusion. The Ortho SUV is an effective tool to carry out deformity corrections using the Ilizarov method.

The analysis report of surgical treatment of limb deformity and disability: 35,075 cases

Objective To investigate the incidence characteristics and corrective strategies of various limb deformities treated by Qinsihe orthopaedic team in the past 40 years, so as to provide a large sample for understanding the causes, types and treatment methods of limb deformity and disability in China. Method A total of 35,075 cases were treated by Qinsihe orthopaedic team from May 1978 to December 2018. The age, gender, deformity characteristics, etiological and pathological composition, regional distribution and surgical methods of the patients were statistically analyzed. Results There were 20,458 males and 14,617 females. The age was 1 year to 82 years old, average 20.5 years. The majority of subjects were from 11 to 25 years old or 19,363 cases (63 %). There were 33,259 cases (94.82 %) of interventions on lower extremity. The geographical distribution of patients covers all the provinces, municipalities directly under the central government, autonomous regions in China and 12 foreign countries. There were 202 etiologies involving neurological, heredity, metabolism, traumatic sequelae, congenital, vascular, lymphoid, skin, endocrine, iatrogenic and so on. The top six deformities were due to poliomyelitis sequelae, cerebral palsy, traumatic sequelae, spondylolysis sequelae, genu varus&valgus, congenital talipes equinovarus. There were 280 kinds of surgical methods, the majority of which were Achilles tendon lengthening, supracondylar osteotomy, subtalar joint arthrodesis, tibiofibular osteotomy, metatarsal aponeurosis and Achilles tendon replacement of peroneal longus muscle, etc. 8,702 cases were treated by orthopedic surgery combined with external fixation, including the Ilizarov fixator in 3,696 cases and hybrid fixator in 5,006 cases. Conclusion Qinsihe orthopaedic database with a history of 40 years is the largest one of limb deformity and disability in China. It reflects the etiology, type, population characteristics, surgical methods and strategy of limb disability and deformity, which can be treated by orthopaedic surgery. The data is a great treasure for orthopaedics and disability medicine in China and worldwide, and its important academic value and historical significance need to be further excavated and deep studied in future.

Ilizarov technology and chinese philosophy (To commemorate the 100th anniversary of the birth of Professor Ilizarov)

The Ilizarov technology was honored as a "milestone" in the history of orthopedics in the 20th century, benefiting tens of thousands of patients around the world, including Chinese patients. The paper presents an analysis of the integration of the method into Chinese medicine, taking into account national traditions, culture and clinical thinking. Ilizarov technology has revolutionized the orthopaedic surgery and clinical limb regeneration medicine in China. Ilizarov's methodology arose suddenly and brought about revolutionary changes in terms of theoretical guidance, methods of thinking, tools used and medical procedures. For the first time, Ilizarov's discovery made people realize that the human body, natural selection in biology and joint symbiotic evolutionary characteristics are common, namely, as long as the levers activate the tissue regeneration switch and changes in regulation, any tissue at any age and to any degree can complete the self-healing process in according to the requirements of doctors and the expectations of patients, similar to the growth of children. The process of working with an external Ilizarov fixator is like playing chess and changing a kaleidoscope, and the countless number of free combinations of stress configurations can be changed in accordance with the needs of the treatment. In China, Qin Xihe integrated the Chinese culture into the Ilizarov technology, thus forming the Chinese Ilizarov technology. He proposed new concepts such as the concept of natural reconstruction, evolutionary orthopedics, interpretation of body language, one walk, two lines, the principle of three balances, happy orthopedics, etc., which were introduced into clinical practice in the field of limb deformity correction and functional reconstruction. As of December 31, 2018, 35,075 cases of various deformities and disorders of the limbs were entered into the Qinsihe orthopedic database, of which 8113 cases were treated with external fixation (Ilizarov technology). The statistics of a large number of cases showed striking results: diseases treated with this technique covered almost all sections of orthopedic pathology and more than 10 sections of non-orthopedic and traumatological pathology, including vascular, nervous, genetic, metabolic, and skin diseases. In addition to orthopedic, there are more than 170 diseases in total. When Ilizarov's technology is applied, it can magically transform the old into the young. Therefore it is known as a "lifeboat". Conclusion Over the past 70 years, Ilizarov's ideas and technologies have been preserved, updated and augmented. Ilizarov's technology serves as an evolutionary phenomenon that transcends bone science. If you understand this technique, you will understand the direction of modern orthopedic surgery and regenerative medicine. Professor Ilizarov's morale and the spirit of fighting to alleviate the suffering of patients were transferred to the Chinese medical community. This awakened many Chinese doctors who followed the norms of the old and stereotyped medicine. After celebrating the centenary of the birth of Professor Ilizarov, ASAMI China will also prepare for the “Sixth ASAMI & ILLRS-BR World Conference (Beijing – 2023)”. We believe that orthopedics and allied disciplines around the world have a bright future.